SMA – OUTCOME MEASURES AND REGISTRIES

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La toxine botulinique dans le traitement des céphalées

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Infantile spinal muscular atrophy: Therapeutic (R)evolution

Summary: Spinal muscular atrophy (SMA) is an auto-somal recessive neuromuscular disorder. The infantile form is the most common genetic cause of infantile death due to respiratory insufficiency. The disorder is caused by the premature death of motor neurons of anterior horn, leading to progressive weakness and muscular atrophy. Longtime considered as untreatable, the pathology knew a real revolution during the last two years. Views on this terrible disease have completely changed, changing, therefore, the management of the patients and constituting new challenges. © 2019 Revue Medicale de Liege. All Rights Reserved

Overview of Patients With Chronic Inflammatory Demyelinating Polyneuropathy of the Neuromuscular Reference Center of Liège

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Cerebrotendinous xanthomatosis, a rare, severe, but treatable metabolic disorder

peer reviewedCerebrotendinous xanthomatosis (CTX) is a rare and treatable autosomal recessive disease. The diagnosis should be suspected in the presence of a suggestive clinical triad characterized by early-onset cataract, tendinous xanthomata and neurological symptoms and signs, notably cerebellar ataxia, mental retardation and pyramidal syndrome.The diagnosis is confirmed by demonstrating an increased blood level of cholestanol, or/and by molecular genetic analysis.In typical cases, brain MRI shows bilateral hyperintensity of the cerebellar nucleus dentatus together with cerebral atrophy and leukoencephalopathy. The treatment is based on the administration of chenodeoxycholic acid. The aim is to restore the negative feedback on the enzymatic cascade altered by mutation in the gene CYP27 which induces a 27-hydroxylase deficienc

Overlap Between Hereditary Sensory- Motor Neuropathy (HSMN) and Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)

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